SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)

NCT04256681 | Completed

• 1 other identifier: GIP 595
• Study Type: interventional
• Target: 80
• Locations: 1 country
• Sites: 1

Brief Summary

The Self-Notion and Perception (SNAP) questionnaire developed at IRCCS E.Medea by Eleonora Diella and Roberta Morganti, arises from the need to quantify the subjective perception of the patient suffering from HSP of the typical symptoms of pathology, such as spasticity, weakness, changes in balance, resistance in walking, pain and fatigue. The purpose of this study is to validate this instrument and test its reliability, looking for correlations with the measurement scales used in the literature for the evaluation of the patient with HSP. The most used for this population are the Spastic Paraplegia Rating Scale (SPRS) and the Six-Minute Walk Test (6MWT) which assess the severity of the disease and the level of endurance (8-9) respectively.

Conditions

Hereditary Spastic Paraparesis

Keywords

OUTCOME MEASURE, HEREDITARY SPASTIC PARAPLEGIA

Outcome Measures

Primary Outcomes (1)

• Test the validity, investigating the correlation with Spastic Paraplegia Rating Scale and with Six-Minute Walk Test, and the reliability (through test-retest mode) of the SNAP questionnaire in the aforementioned population.

  the Spastic Paraplegia Rating Scale (SPRS) and the Six-Minute Walk Test (6MWT) which assess the severity of the disease and the level of endurance respectively.

  2 days

Study Arms (2)

patients affected by hereditary spastic paraplegia

EXPERIMENTAL

40 subjects affected by genetically determined hereditary spastic paraparesis or subjects without defined genetics but who unequivocally show a dominant or recessive familiarity with exclusive involvement of the pyramidal system.

Other: SNAP questionnaire

healthy subjects

ACTIVE COMPARATOR

40 healthy subjects will also be recruited to whom the questionnaire will be submitted to assess the variability of the score within a healthy population.

Other: SNAP questionnaire

Interventions

SNAP questionnaire OTHER

The SNAP questionnaire will be administered 2 times in 2 consecutive days to evaluate its reliability. The questionnaire will be self-filled by the patient. Then the SPRS scale and, where possible, the 6MWT will be administered.

healthy subjects; patients affected by hereditary spastic paraplegia

Eligibility Criteria

• Age: 9 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• diagnosis of genetically determined hereditary spastic paraparesis or subjects without defined genetics but who unequivocally show at the time of evaluation a dominant or recessive familiarity with exclusive involvement of the pyramidal system
• age\> 9 years
• IQ\> 80
• The patient must be able to walk for at least 10 meters. Indoors, even with help

You may not qualify if:

• Age less than 9 years
• IQ \<80,
• loss of gait
• psychopathological aspects that can affect the validity of the data collected

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (1)

Eleonora Diella

Bosisio Parini, Italy

Location

Related Publications (1)

• Diella E, D'Angelo MG, Stefan C, Girardi G, Morganti R, Martinuzzi A, Biffi E. Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia. PLoS One. 2024 Apr 1;19(4):e0301452. doi: 10.1371/journal.pone.0301452. eCollection 2024.

  PMID: 38557877 DERIVED

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 3, 2020
• First Posted: February 5, 2020
• Study Start: October 30, 2018
• Primary Completion: May 31, 2021
• Study Completion: May 31, 2021
• Last Updated: November 26, 2021

Record last verified: 2021-11

Locations

IT (1)